A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028952



Internal ID19118171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135804128..135859502hg38UCSC Ensembl
Innerchr5:135139817..135195191hg19UCSC Ensembl
Innerchr5:135167716..135223090hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3855375
hg1955375
hg1855375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648128
Samples
Known GenesSLC25A48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028952
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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